Genetics of pancreatitis: An update for clinicians and genetic counselors

被引：31

作者：

Solomon S. ^{[1
]}

Whitcomb D.C. ^{[1
,2
,3
,4
]}

机构：

[1] Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh, Pittsburgh

[2] Department of Cell Biology and Molecular Physiology, University of Pittsburgh, Pittsburgh

[3] Department of Human Genetics, University of Pittsburgh, Pittsburgh

[4] GI Administration, Pittsburgh, PA 15213

来源：

Current Gastroenterology Reports | 2012年 / 14卷 / 2期

基金：

美国国家卫生研究院;

关键词：

Acute pancreatitis; CASR; CFTR; Chronic pancreatitis; CTRC; Family history; Gene-environment interactions; Genetic counseling; Genetic counselor; Genetic testing; Hereditary pancreatitis; Next generation sequencing; Personalized medicine; PRSS1; Psychosocial; Risk assessment; SPINK1; Whole genome/exome sequencing;

D O I：

10.1007/s11894-012-0240-1

中图分类号：

学科分类号：

摘要：

With novel genetic technologies available, there is a paradigm shift in the way that risk assessments, diagnoses, and therapies for genetic susceptibility syndromes are addressed. Hereditary pancreatitis is among these conditions, for which genetic counseling and next generation sequencing, help families better understand, cope with and live healthier lives. Identifying a genetic etiology to a condition formally believed to be solely environmentally induced can alter the path for treatment for many patients. This finding introduces the concept of gene-environment interactions in human disease and the relationship between genetic predisposition and exposure risk in disease development. The genetic counseling process is complex with medical explanations, psychosocial issues relating to coping with diagnosis, potential future health problems, recurrence risks and family planning. These sometimes difficult conversations can be facilitated by a genetic counselor as a member of the multidisciplinary team. This chapter addresses the intricate medical and psychosocial issues that can arise in the setting of treating patients with hereditary pancreatitis. © Springer Science+Business Media, LLC 2012.

引用

页码：112 / 117

页数：5

共 27 条

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